ClinVar Miner

List of variants in gene CANT1 reported as likely pathogenic for Desbuquois dysplasia

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_001159773.2(CANT1):c.1112C>T (p.Ala371Val) rs372631124
NM_001159773.2(CANT1):c.228dup (p.Trp77fs) rs587776896
NM_001159773.2(CANT1):c.551C>T (p.Thr184Met) rs770371904

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